WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clin Genet. 2020 Oct 30;:
Authors: Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C
Abstract
Rod-cone dystrophy (RCD), also called Retinitis Pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60-70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD.
PMID: 33124039 [PubMed - as supplied by publisher]

Source: Clinical Genetics - October 30, 2020 Category: Genetics & Stem Cells Authors: Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel J Tags: Clin Genet Source Type: research